Canonical Allele Identifier: CA381652965
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936654G>C , CM000673.2:g.68936654G>C GRCh38
NC_000011.9:g.68704122G>C , CM000673.1:g.68704122G>C GRCh37
NC_000011.8:g.68460698G>C NCBI36
NG_007976.1:g.37804G>C , LRG_250:g.37804G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2174G>C MANE Select ENSP00000255078.4:p.Gly725Ala
ENST00000674675.1:c.418G>C
ENST00000674878.1:c.418G>C
ENST00000674955.1:c.*891G>C ENSP00000502463.1:n.*891G>C
ENST00000675118.1:c.1662G>C
ENST00000675389.1:n.449G>C
ENST00000675615.1:c.2174G>C ENSP00000502413.1:p.Gly725Ala
ENST00000675648.1:n.1549G>C
ENST00000675916.1:c.418G>C
ENST00000676173.1:n.2919G>C
ENST00000676182.1:c.605G>C
ENST00000676228.1:c.*1497G>C ENSP00000502375.1:n.*1497G>C
ENST00000255078.7:c.2174G>C ENSP00000255078.3:p.Gly725Ala
ENST00000539064.5:n.1933G>C
ENST00000543739.5:n.1167G>C
NM_002180.2:c.2174G>C , LRG_250t1:c.2174G>C NP_002171.2:p.Gly725Ala
XM_005273974.2:c.1163G>C XP_005274031.1:p.Gly388Ala
XM_005273975.2:c.1046G>C XP_005274032.1:p.Gly349Ala
XM_011544994.1:c.941G>C XP_011543296.1:p.Gly314Ala
XR_949903.1:n.2276G>C
XM_005273975.3:c.1046G>C XP_005274032.1:p.Gly349Ala
XM_017017669.2:c.1163G>C XP_016873158.1:p.Gly388Ala
XM_017017670.2:c.1163G>C XP_016873159.1:p.Gly388Ala
XR_949903.3:n.2272G>C
NM_002180.3:c.2174G>C MANE Select NP_002171.2:p.Gly725Ala